ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828327890
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445565
RCV000766764
RCV001267433
RCV001339351
ClinVar Variation:
393491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Glu301_Pro312del
CA10558461
NM_001369394.2:c.901_936del